Incidental Mutation 'R7760:Man2c1'
ID |
597801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Man2c1
|
Ensembl Gene |
ENSMUSG00000032295 |
Gene Name |
mannosidase, alpha, class 2C, member 1 |
Synonyms |
1110025H24Rik |
MMRRC Submission |
045816-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7760 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
57037953-57049497 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57046647 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 636
(V636A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125478
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034836]
[ENSMUST00000034842]
[ENSMUST00000159130]
[ENSMUST00000160147]
[ENSMUST00000160584]
[ENSMUST00000161182]
[ENSMUST00000161338]
[ENSMUST00000161663]
[ENSMUST00000162915]
[ENSMUST00000186410]
[ENSMUST00000190245]
|
AlphaFold |
Q91W89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034836
AA Change: V634A
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000034836 Gene: ENSMUSG00000032295 AA Change: V634A
Domain | Start | End | E-Value | Type |
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_38
|
251 |
510 |
4.3e-89 |
PFAM |
Alpha-mann_mid
|
516 |
593 |
1.37e-26 |
SMART |
low complexity region
|
603 |
613 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_38C
|
619 |
1029 |
1.3e-84 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000034842
|
SMART Domains |
Protein: ENSMUSP00000034842 Gene: ENSMUSG00000032298
Domain | Start | End | E-Value | Type |
Fapy_DNA_glyco
|
2 |
124 |
2.9e-16 |
SMART |
H2TH
|
139 |
224 |
9.35e-2 |
SMART |
Pfam:Neil1-DNA_bind
|
252 |
290 |
2.2e-28 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000124304 Gene: ENSMUSG00000032295 AA Change: V140A
Domain | Start | End | E-Value | Type |
Alpha-mann_mid
|
21 |
100 |
1.22e-32 |
SMART |
low complexity region
|
110 |
120 |
N/A |
INTRINSIC |
low complexity region
|
164 |
180 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159130
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160147
AA Change: V636A
PolyPhen 2
Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000125478 Gene: ENSMUSG00000032295 AA Change: V636A
Domain | Start | End | E-Value | Type |
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_38
|
251 |
510 |
2.8e-86 |
PFAM |
Alpha-mann_mid
|
516 |
595 |
1.22e-32 |
SMART |
low complexity region
|
605 |
615 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_38C
|
621 |
1031 |
1.2e-84 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000124005 Gene: ENSMUSG00000032295 AA Change: V117A
Domain | Start | End | E-Value | Type |
Alpha-mann_mid
|
24 |
77 |
4.48e-1 |
SMART |
low complexity region
|
87 |
97 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160584
|
SMART Domains |
Protein: ENSMUSP00000123840 Gene: ENSMUSG00000032295
Domain | Start | End | E-Value | Type |
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161182
AA Change: V537A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124020 Gene: ENSMUSG00000032295 AA Change: V537A
Domain | Start | End | E-Value | Type |
Pfam:Glyco_hydro_38
|
175 |
411 |
9.4e-67 |
PFAM |
Alpha-mann_mid
|
417 |
496 |
1.22e-32 |
SMART |
low complexity region
|
506 |
516 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_38C
|
522 |
932 |
1.1e-84 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161338
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161663
AA Change: V677A
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124124 Gene: ENSMUSG00000032295 AA Change: V677A
Domain | Start | End | E-Value | Type |
low complexity region
|
187 |
195 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_38
|
302 |
551 |
1.8e-81 |
PFAM |
Alpha-mann_mid
|
557 |
636 |
1.22e-32 |
SMART |
low complexity region
|
646 |
656 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_38C
|
662 |
866 |
1.2e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162915
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186410
|
SMART Domains |
Protein: ENSMUSP00000141048 Gene: ENSMUSG00000032298
Domain | Start | End | E-Value | Type |
Fapy_DNA_glyco
|
2 |
124 |
2.9e-16 |
SMART |
H2TH
|
139 |
224 |
9.35e-2 |
SMART |
Pfam:Neil1-DNA_bind
|
252 |
290 |
2.1e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190245
|
SMART Domains |
Protein: ENSMUSP00000139917 Gene: ENSMUSG00000032298
Domain | Start | End | E-Value | Type |
Fapy_DNA_glyco
|
2 |
124 |
2.9e-16 |
SMART |
H2TH
|
139 |
224 |
9.35e-2 |
SMART |
Pfam:Neil1-DNA_bind
|
252 |
290 |
2.1e-29 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (55/55) |
MGI Phenotype |
PHENOTYPE: Germ line null mutants display neuronal and glia degeneration, glycogen accumulation, and liver and kidney damage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa11 |
C |
T |
14: 25,873,251 (GRCm39) |
Q162* |
probably null |
Het |
Arg1 |
T |
G |
10: 24,803,361 (GRCm39) |
|
probably benign |
Het |
Arl6 |
T |
C |
16: 59,439,169 (GRCm39) |
D175G |
probably damaging |
Het |
Capg |
A |
G |
6: 72,534,769 (GRCm39) |
R199G |
probably damaging |
Het |
Ceacam1 |
T |
A |
7: 25,171,450 (GRCm39) |
E338V |
probably damaging |
Het |
Clec4d |
A |
G |
6: 123,247,300 (GRCm39) |
N148D |
probably benign |
Het |
Ctr9 |
T |
G |
7: 110,645,808 (GRCm39) |
I653R |
probably damaging |
Het |
Dmwd |
C |
T |
7: 18,814,660 (GRCm39) |
L437F |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,240,413 (GRCm39) |
L1510Q |
probably damaging |
Het |
Efcab5 |
T |
A |
11: 77,042,752 (GRCm39) |
E136D |
probably benign |
Het |
Elfn2 |
C |
T |
15: 78,558,041 (GRCm39) |
A169T |
probably benign |
Het |
Elp1 |
A |
G |
4: 56,790,892 (GRCm39) |
V287A |
probably benign |
Het |
Esrp2 |
T |
A |
8: 106,860,102 (GRCm39) |
E326D |
probably benign |
Het |
Fbrs |
T |
C |
7: 127,088,572 (GRCm39) |
V718A |
probably damaging |
Het |
Fbxl21 |
C |
T |
13: 56,684,816 (GRCm39) |
R307C |
probably benign |
Het |
Fbxl21 |
T |
C |
13: 56,674,747 (GRCm39) |
S33P |
probably benign |
Het |
Gatad2b |
C |
T |
3: 90,261,776 (GRCm39) |
R461W |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,269,491 (GRCm39) |
C1109S |
probably damaging |
Het |
Gm6882 |
T |
A |
7: 21,161,409 (GRCm39) |
D153V |
probably damaging |
Het |
Golga3 |
A |
G |
5: 110,353,716 (GRCm39) |
E918G |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,773,417 (GRCm39) |
N219S |
probably benign |
Het |
Grpel1 |
G |
T |
5: 36,627,986 (GRCm39) |
R89L |
probably damaging |
Het |
Ighv5-12 |
T |
A |
12: 113,665,795 (GRCm39) |
Q101L |
probably benign |
Het |
Ldb3 |
T |
A |
14: 34,264,460 (GRCm39) |
N590I |
probably damaging |
Het |
Mblac2 |
G |
T |
13: 81,859,996 (GRCm39) |
V117L |
probably benign |
Het |
Muc6 |
T |
A |
7: 141,237,322 (GRCm39) |
|
probably null |
Het |
Nfatc3 |
A |
G |
8: 106,834,973 (GRCm39) |
E773G |
possibly damaging |
Het |
Ngef |
T |
C |
1: 87,468,495 (GRCm39) |
D88G |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,388,186 (GRCm39) |
E478G |
probably damaging |
Het |
Or2t6 |
T |
C |
14: 14,175,905 (GRCm38) |
Y59C |
probably damaging |
Het |
Pbx4 |
C |
A |
8: 70,285,445 (GRCm39) |
D29E |
probably benign |
Het |
Pcdhgb5 |
A |
G |
18: 37,864,690 (GRCm39) |
I162V |
not run |
Het |
Pdcd11 |
G |
A |
19: 47,101,637 (GRCm39) |
V941M |
possibly damaging |
Het |
Pigr |
A |
T |
1: 130,774,368 (GRCm39) |
R449S |
possibly damaging |
Het |
Plcb2 |
T |
C |
2: 118,541,869 (GRCm39) |
T914A |
probably benign |
Het |
Ppp5c |
A |
G |
7: 16,740,274 (GRCm39) |
S387P |
probably damaging |
Het |
Rnf7l |
T |
C |
10: 63,257,316 (GRCm39) |
K68R |
probably damaging |
Het |
Rtkn2 |
T |
G |
10: 67,841,439 (GRCm39) |
S196A |
probably damaging |
Het |
Sec31a |
A |
G |
5: 100,540,487 (GRCm39) |
F400L |
probably damaging |
Het |
Senp7 |
A |
T |
16: 55,959,442 (GRCm39) |
M251L |
probably benign |
Het |
Slc6a5 |
T |
C |
7: 49,596,365 (GRCm39) |
F612L |
probably benign |
Het |
Slc7a9 |
T |
C |
7: 35,156,500 (GRCm39) |
I314T |
possibly damaging |
Het |
Smc5 |
A |
C |
19: 23,213,254 (GRCm39) |
S553A |
probably benign |
Het |
Spaca3 |
T |
A |
11: 80,755,389 (GRCm39) |
V133D |
probably damaging |
Het |
Taco1 |
T |
A |
11: 105,963,938 (GRCm39) |
D232E |
possibly damaging |
Het |
Tarbp1 |
C |
T |
8: 127,179,546 (GRCm39) |
R664H |
not run |
Het |
Tlk2 |
T |
C |
11: 105,169,993 (GRCm39) |
I674T |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,931,911 (GRCm39) |
E2148V |
probably damaging |
Het |
Tom1l2 |
T |
C |
11: 60,165,791 (GRCm39) |
S59G |
probably benign |
Het |
Traj46 |
A |
T |
14: 54,409,813 (GRCm39) |
H7L |
|
Het |
Traj46 |
T |
G |
14: 54,409,814 (GRCm39) |
H7Q |
|
Het |
Trav6-4 |
T |
A |
14: 53,692,103 (GRCm39) |
L70Q |
possibly damaging |
Het |
Trmt1l |
C |
T |
1: 151,318,425 (GRCm39) |
T245I |
possibly damaging |
Het |
Wac |
T |
A |
18: 7,921,913 (GRCm39) |
C601S |
probably benign |
Het |
Wnt3 |
T |
A |
11: 103,702,266 (GRCm39) |
H145Q |
probably benign |
Het |
Zfp948 |
T |
C |
17: 21,808,628 (GRCm39) |
C607R |
probably damaging |
Het |
|
Other mutations in Man2c1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01314:Man2c1
|
APN |
9 |
57,049,103 (GRCm39) |
missense |
probably benign |
|
IGL01408:Man2c1
|
APN |
9 |
57,048,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01618:Man2c1
|
APN |
9 |
57,048,840 (GRCm39) |
unclassified |
probably benign |
|
IGL01750:Man2c1
|
APN |
9 |
57,048,064 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01796:Man2c1
|
APN |
9 |
57,045,244 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02661:Man2c1
|
APN |
9 |
57,044,766 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03166:Man2c1
|
APN |
9 |
57,046,382 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03176:Man2c1
|
APN |
9 |
57,048,030 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03209:Man2c1
|
APN |
9 |
57,049,114 (GRCm39) |
missense |
probably benign |
0.00 |
R0014:Man2c1
|
UTSW |
9 |
57,046,985 (GRCm39) |
missense |
probably benign |
0.00 |
R0329:Man2c1
|
UTSW |
9 |
57,048,467 (GRCm39) |
missense |
probably benign |
0.40 |
R0432:Man2c1
|
UTSW |
9 |
57,042,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R1448:Man2c1
|
UTSW |
9 |
57,042,503 (GRCm39) |
missense |
probably benign |
0.23 |
R1616:Man2c1
|
UTSW |
9 |
57,042,793 (GRCm39) |
missense |
probably benign |
0.00 |
R1838:Man2c1
|
UTSW |
9 |
57,044,621 (GRCm39) |
missense |
probably benign |
0.07 |
R2511:Man2c1
|
UTSW |
9 |
57,048,672 (GRCm39) |
splice site |
probably null |
|
R3751:Man2c1
|
UTSW |
9 |
57,048,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R3771:Man2c1
|
UTSW |
9 |
57,047,661 (GRCm39) |
unclassified |
probably benign |
|
R3772:Man2c1
|
UTSW |
9 |
57,047,661 (GRCm39) |
unclassified |
probably benign |
|
R4110:Man2c1
|
UTSW |
9 |
57,044,055 (GRCm39) |
missense |
probably damaging |
0.98 |
R4116:Man2c1
|
UTSW |
9 |
57,047,589 (GRCm39) |
critical splice donor site |
probably null |
|
R4167:Man2c1
|
UTSW |
9 |
57,045,310 (GRCm39) |
missense |
probably benign |
0.15 |
R4169:Man2c1
|
UTSW |
9 |
57,045,310 (GRCm39) |
missense |
probably benign |
0.15 |
R4170:Man2c1
|
UTSW |
9 |
57,045,310 (GRCm39) |
missense |
probably benign |
0.15 |
R4405:Man2c1
|
UTSW |
9 |
57,046,367 (GRCm39) |
missense |
probably damaging |
0.98 |
R4551:Man2c1
|
UTSW |
9 |
57,038,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R4618:Man2c1
|
UTSW |
9 |
57,049,439 (GRCm39) |
splice site |
probably null |
|
R4798:Man2c1
|
UTSW |
9 |
57,048,469 (GRCm39) |
nonsense |
probably null |
|
R4903:Man2c1
|
UTSW |
9 |
57,046,240 (GRCm39) |
missense |
probably benign |
0.08 |
R5030:Man2c1
|
UTSW |
9 |
57,047,923 (GRCm39) |
missense |
probably benign |
0.00 |
R5079:Man2c1
|
UTSW |
9 |
57,044,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R5086:Man2c1
|
UTSW |
9 |
57,038,924 (GRCm39) |
missense |
probably damaging |
0.96 |
R6430:Man2c1
|
UTSW |
9 |
57,038,517 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6695:Man2c1
|
UTSW |
9 |
57,048,875 (GRCm39) |
missense |
probably benign |
0.03 |
R6743:Man2c1
|
UTSW |
9 |
57,042,849 (GRCm39) |
missense |
probably benign |
0.41 |
R7011:Man2c1
|
UTSW |
9 |
57,045,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R7493:Man2c1
|
UTSW |
9 |
57,048,412 (GRCm39) |
missense |
probably damaging |
0.98 |
R7513:Man2c1
|
UTSW |
9 |
57,046,683 (GRCm39) |
missense |
probably benign |
0.44 |
R7527:Man2c1
|
UTSW |
9 |
57,045,100 (GRCm39) |
nonsense |
probably null |
|
R7540:Man2c1
|
UTSW |
9 |
57,047,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R7868:Man2c1
|
UTSW |
9 |
57,045,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R8261:Man2c1
|
UTSW |
9 |
57,046,942 (GRCm39) |
missense |
probably benign |
0.17 |
R8397:Man2c1
|
UTSW |
9 |
57,042,783 (GRCm39) |
missense |
probably benign |
0.01 |
R8429:Man2c1
|
UTSW |
9 |
57,038,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R8519:Man2c1
|
UTSW |
9 |
57,044,061 (GRCm39) |
missense |
probably benign |
0.12 |
R8530:Man2c1
|
UTSW |
9 |
57,038,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R8544:Man2c1
|
UTSW |
9 |
57,038,325 (GRCm39) |
splice site |
probably null |
|
R8925:Man2c1
|
UTSW |
9 |
57,048,456 (GRCm39) |
nonsense |
probably null |
|
R8927:Man2c1
|
UTSW |
9 |
57,048,456 (GRCm39) |
nonsense |
probably null |
|
R8960:Man2c1
|
UTSW |
9 |
57,045,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R9171:Man2c1
|
UTSW |
9 |
57,044,317 (GRCm39) |
nonsense |
probably null |
|
R9326:Man2c1
|
UTSW |
9 |
57,042,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R9414:Man2c1
|
UTSW |
9 |
57,044,030 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGCTCTCAGGGCTAAGC -3'
(R):5'- TAGCCTCTCTGAAGGTCTAGACAC -3'
Sequencing Primer
(F):5'- TCTCAGGGCTAAGCGGGAC -3'
(R):5'- AGGTCTAGACACCTTGCTCAG -3'
|
Posted On |
2019-11-26 |